Article

Gene Therapy Rescues Cone Function in an All-cone Retina Mouse Model for Blue Cone Monochromacy with the Most Common C203R Missense Mutation

2025-09-07

Abstract excerpt

Blue cone monochromacy (BCM) is an X-linked cone dystrophy characterized by loss of long- (L) and medium-wavelength (M) cone function. A common cause is the C203R missense mutation, which occurs in both OPN1LW and OPN1MW , or in hybrid OPN1LW/OPN1MW opsin genes. Because BCM primarily affects foveal cones, we generated Opn1mw C198R /Opn1sw -/- /Nrl -/- ( C198RAC ) mice carrying the murine equivalent of the...

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Literature Corpus work: 06b51978-1bbb-5635-9dd7-a6c1057e4334
DOI: 10.1101/2025.09.04.674359

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